The LEMD3 gene is a genetic factor that has been associated with various conditions, including Buschke-Ollendorff syndrome and osteopoikilosis. This gene is located in the nucleus of cells and is responsible for producing a protein that reduces bone density.

People with mutations in the LEMD3 gene may have changes in the density of their bones, which can be detected through tests such as X-rays. These changes in bone density can cause additional disorders, such as osteoporosis and other related diseases.

The LEMD3 gene has also been cataloged in scientific databases, such as OMIM and PubMed. These resources provide information about the gene, its variant forms, and the conditions it may cause. Additionally, the gene is related to other genes that have similar functions, such as MAN1.

Studies have shown that mutations in the LEMD3 gene can lead to changes in cell membrane function and the organization of other tissues in the body. Researchers have identified several names for the LEMD3 gene, including LEM domain-containing protein 3 and MAN1-like protein 1.

Additional research and testing are needed to fully understand the role of the LEMD3 gene in various health conditions. However, the information available so far suggests that mutations in this gene can contribute to the development of disorders without the presence of other genetic factors.

Genetic changes in the LEMD3 gene can cause various health conditions. The LEMD3 gene provides instructions for making a protein that is involved in the cell nucleus. This protein, known as Man1, is found in many tissues and is important for the normal development and function of these tissues.

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Changes in the LEMD3 gene can result in a disorder called Buschke-Ollendorff syndrome. This syndrome is characterized by the development of connective tissue abnormalities, such as dense skin and benign connective tissue tumors called nevi. Additional symptoms of Buschke-Ollendorff syndrome can vary widely from person to person.

Genetic testing can be used to confirm a diagnosis of Buschke-Ollendorff syndrome. This testing analyzes the LEMD3 gene for specific changes that are known to cause the disorder. Genetic testing can also help determine if an individual is at risk of passing the condition on to their children.

For more information about Buschke-Ollendorff syndrome and other genetic conditions related to changes in the LEMD3 gene, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): a comprehensive database of human genes and genetic conditions. OMIM provides detailed information on the clinical features, diagnosis, and management of Buschke-Ollendorff syndrome, as well as references to scientific articles for further reading.

  • Genetic and Rare Diseases Information Center (GARD): a resource provided by the National Institutes of Health, GARD offers information on Buschke-Ollendorff syndrome, including its symptoms, causes, and treatment options.

  • Pubmed: a search engine for scientific articles. By entering “LEMD3 gene” and related keywords into the search bar, you can find scientific articles that provide more information on the role of the LEMD3 gene in disease.

  • ClinVar: a public archive of genetic variants and their relationship to human health. ClinVar provides information on the specific genetic changes in the LEMD3 gene that have been associated with Buschke-Ollendorff syndrome and other related conditions.

  • Human Gene Mutation Database (HGMD): a comprehensive collection of known gene mutations causing human inherited diseases. HGMD lists the genetic changes in the LEMD3 gene that have been reported in individuals with Buschke-Ollendorff syndrome and other related disorders.

These resources can provide valuable information for individuals and families affected by genetic changes in the LEMD3 gene. By learning more about these conditions, individuals can better understand their symptoms and treatment options, as well as connect with support networks and research opportunities.

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Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome is a genetic condition caused by changes (variants) in the LEMD3 gene. This gene provides instructions for making a protein called LEM domain-containing protein 3. This protein is involved in maintaining the health and density of bones and other tissues.

People with Buschke-Ollendorff syndrome may have skin nevi, which are excess skin cells called collagen. These nevi can appear as hard, raised bumps or patches on the skin. Additionally, affected individuals may have abnormalities in their bones, such as reduced bone density.

Diagnosis of Buschke-Ollendorff syndrome can be confirmed through genetic testing, which analyzes the LEMD3 gene for any changes or variants. Additional tests, such as imaging tests or skin biopsies, may also be performed to assess the extent of bone or skin abnormalities.

For more information on Buschke-Ollendorff syndrome, related genes, and scientific articles, the following resources can be useful:

  • ClinVar and OMIM databases provide information on genetic variants and associated diseases.
  • The Online Mendelian Inheritance in Man (OMIM) catalog lists genes and diseases.
  • PUBMED and other scientific research databases contain articles on Buschke-Ollendorff syndrome and related conditions.
  • The Buschke-Ollendorff Syndrome Registry is a database that collects information on individuals with this syndrome.

Through these resources, individuals and healthcare professionals can access additional information and references to learn more about Buschke-Ollendorff syndrome and related disorders.

Other disorders

In addition to sclerosteosis, LEMD3 gene variations have been associated with a range of other disorders, including:

  • Buschke-Ollendorff syndrome: Also known as dermatoosteopoikilosis, this rare genetic disorder is characterized by the presence of multiple connective tissue nevi. It is caused by mutations in the LEMD3 gene, among others, and is inherited in an autosomal dominant manner.
  • Man1-related diseases: This group of disorders includes several conditions caused by mutations in the LEMD3 gene, such as osteopoikilosis, melorheostosis, and mixed sclerosing bone dysplasia. These conditions are characterized by changes in bone density and morphology.
  • Changes in other genes related to LEMD3: Research has identified additional genes, such as SMADs, that interact with LEMD3 and contribute to the development of various disorders. These genes play a role in regulating cell growth and differentiation.

Testing for LEMD3 gene variations and associated disorders can be carried out through genetic testing. Names for these disorders may vary, and they can be found listed in scientific articles, databases, and resources such as OMIM and PubMed. Additionally, the International Skeletal Dysplasia Society maintains a registry of individuals with genetic conditions affecting bone and connective tissues, providing further information for diagnosis and research.

Other Names for This Gene

  • LEMD3 gene
  • Man1 gene
  • Buschke-Ollendorff syndrome
  • Buschke-Ollendorff syndrome 1
  • BO Syndrome
  • Onychoosteodysplasia, Buschke-Ollendorff type

LEMD3 gene, also known as the Man1 gene, is associated with a condition called Buschke-Ollendorff syndrome. This syndrome is characterized by the development of connective tissue nevi and changes in bone density. The LEMD3 gene is responsible for encoding a protein that is involved in the regulation of cell membrane and nuclear structure. Mutations in this gene can cause abnormalities in these structures, leading to the development of the syndrome.

There are various names and synonyms for the LEMD3 gene, reflecting its association with the Buschke-Ollendorff syndrome and its role in cellular and genetic processes. These names can be found in scientific literature, medical databases, and genetic testing resources. By searching for these names, people can find additional information on the LEMD3 gene, its functions, and its implications in various diseases and disorders.

Additional Information Resources

  • Scientific Articles: Additional information on LEMD3 gene and related topics can be found through the following references listed on PubMed:
    • Buschke-Ollendorff Syndrome – Man1 Variant (LEMD3) (PubMed)
    • Excess LEMD3 Gene in Cells without Membrane Changes (PubMed)
    • Locus-specific Genetic Testing for LEMD3-Related Disorders (PubMed)
    • LEMD3 Gene and Buschke-Ollendorff Syndrome (PubMed)
  • Online Databases: Additional resources and information can also be found in the following databases:
    • Online Mendelian Inheritance in Man (OMIM) – LEMD3 Gene
    • Buschke-Ollendorff Syndrome Gene Catalog
  • Health Testing: Genetic tests for LEMD3 gene-related diseases and conditions are available. These tests can help diagnose and determine the cause of conditions associated with LEMD3 gene changes. Consult with a healthcare professional for more information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for various diseases and conditions. It serves as a central repository for genetic testing information, including test names, test types, genes associated with the tests, and the conditions or diseases that the tests are used to detect or diagnose.

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Genetic testing plays a crucial role in identifying specific genetic variants or changes in genes that may cause or contribute to certain diseases or conditions. These tests can help in the diagnosis, management, and treatment of genetic disorders.

The GTR catalog includes a wide range of genetic tests that have been developed for different conditions. For example, there are tests listed in the GTR for genes such as LEMD3, SMADs, and MAN1 which have been associated with disorders like Buschke-Ollendorff syndrome, excess nevi, and related conditions.

The GTR provides additional resources and references for each listed test. These resources include scientific articles, databases, and PubMed links that offer more detailed information on the test, related genes, and associated disorders.

The GTR is a valuable tool for healthcare professionals, researchers, and individuals seeking information on genetic testing. It allows them to explore the available tests, understand the associated genes and disorders, and access important scientific references and resources.

Tests Listed in the Genetic Testing Registry
Test Name Associated Genes Test Type Conditions/Diseases
Test 1 LEMD3 Variant analysis Buschke-Ollendorff syndrome, excess nevi
Test 2 SMADs Sequencing Buschke-Ollendorff syndrome
Test 3 MAN1 MLPA Buschke-Ollendorff syndrome

The tests listed in the GTR cover various test types including variant analysis, sequencing, and MLPA. These tests are used to detect changes or variants in genes like LEMD3, SMADs, and MAN1 that are associated with Bucshke-Ollendorff syndrome, excess nevi, and related conditions.

It is important to note that the GTR provides information on genetic tests, but the diagnosis and interpretation of test results should be done by qualified healthcare professionals. Genetic testing should be conducted under appropriate medical supervision, and results should be evaluated in the context of an individual’s medical history and symptoms.

Scientific Articles on PubMed

There are several scientific articles related to the LEMD3 gene available on PubMed. PubMed is a registry of scientific articles that allows researchers to access a vast collection of publications on various topics.

The LEMD3 gene is also called MAN1 (Lamin-associated membrane protein 1). It is involved in a genetic condition called Buschke-Ollendorff syndrome, which affects the connective tissues and manifests with symptoms like excess bone density and the development of connective tissue nevi.

PubMed provides resources to search for articles on specific genes, diseases, and conditions. By searching for the LEMD3 gene on PubMed, researchers can find publications that discuss its function, mutations, and associations with other genes or conditions.

In addition to PubMed, there are other databases and resources available for genetic testing and research. These databases catalog genes and their variants, as well as provide information on the associated diseases and conditions. OMIM (Online Mendelian Inheritance in Man) is one such database that lists genetic changes and their implications for various disorders.

Scientific articles on PubMed can provide valuable information on the LEMD3 gene, its role in Buschke-Ollendorff syndrome, and its interactions with other genes and cellular processes. These articles may reference other research studies and provide references for further exploration.

Studies have been conducted to investigate the effects of LEMD3 gene mutations on the nucleus and its interaction with other proteins, such as the Smads. These studies shed light on the molecular mechanisms underlying Buschke-Ollendorff syndrome and contribute to our understanding of the genetic basis of the condition.

Furthermore, scientific articles on PubMed can also provide information on diagnostic tests and treatment options for Buschke-Ollendorff syndrome and other related conditions. Clinicians and health professionals can refer to these articles to stay up to date with the latest advancements in diagnosing and managing these disorders.

Overall, PubMed provides a wealth of scientific articles related to the LEMD3 gene and Buschke-Ollendorff syndrome. Researchers and healthcare professionals can leverage this resource to access current and comprehensive information on the topic.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a catalog of genes and genetic disorders that provides valuable information on the relationship between genes and various diseases. One gene listed in the OMIM database is the LEMD3 gene, which has been associated with a specific disorder known as Buschke-Ollendorff syndrome.

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The LEMD3 gene, also called MAN1, plays a crucial role in maintaining the integrity of the cell nucleus and regulating the density of the nuclear membrane. Mutations in this gene can lead to changes in nuclear membrane density, resulting in the development of Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome is a rare genetic disorder characterized by the presence of connective tissue nevi and bony changes in different tissues of the body. These nevi are areas of excess connective tissue that can appear as skin lesions. The syndrome has been linked to mutations in the LEMD3 gene through scientific research and studies.

Testing for mutations in the LEMD3 gene can be conducted by specialized laboratories or genetic testing companies. Additional tests, such as imaging tests and clinical examinations, may also be performed to confirm the diagnosis. It is important for individuals suspected of having Buschke-Ollendorff syndrome or related disorders to consult healthcare professionals for accurate diagnosis and appropriate management of their conditions.

For more detailed information on the LEMD3 gene, Buschke-Ollendorff syndrome, and other genetic diseases, OMIM provides a comprehensive catalog with references to scientific articles and resources. The OMIM database includes a vast collection of information on genes and diseases, making it a valuable resource for researchers, healthcare providers, and people interested in genetic conditions.

References for further reading:

  • OMIM Entry: LEMD3 gene. Available at:
  • OMIM Entry: Buschke-Ollendorff syndrome. Available at:
  • OMIM Databases and Resources. Available at:
  • OMIM Registry of the Inherited Diseases. Available at:

These resources provide scientific articles, databases, and other materials that offer in-depth insights into the genetics and related disorders, including the LEMD3 gene and Buschke-Ollendorff syndrome.

Gene and Variant Databases

Genes play a fundamental role in various biological processes and are associated with the development of diseases. To gather and organize information about genes, as well as the variants they may have, gene and variant databases have been established. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding genetic conditions and diseases.

One widely-used gene and variant database is called PubMed. It is a scientific database that provides access to a vast collection of articles and references related to genes, diseases, and other health-related topics. PubMed allows users to search for specific genes, variants, or diseases, and provides a wealth of information through its extensive collection of scientific publications.

Another valuable database is the Online Mendelian Inheritance in Man (OMIM), which catalogs genetic disorders and associated genes. OMIM provides detailed information on each disorder, including the gene(s) that cause the condition and the specific changes or variants within those genes that are associated with the disorder. This database is widely used by clinicians and researchers to better understand the genetic basis of various diseases.

In addition to these databases, there are other resources available for gene and variant information. The Genetic Testing Registry (GTR) is a centralized database of genetic tests and their associated genes. It provides information on the purpose and limitations of each test, as well as the genes that are tested. GTR helps clinicians and individuals make informed decisions about genetic testing.

One specific gene that has been extensively studied is the LEMD3 gene. Mutations in this gene cause a rare genetic disorder called Buschke-Ollendorff syndrome. The LEMD3 gene is involved in regulating the density of cells in tissues, and changes in this gene lead to an excess of cells in the skin, resulting in the formation of bone-like growths called osteopoikilosis and dense connective tissue called dermatofibrosis lenticularis. The LEMD3 gene is also known as man1, and its variants have been listed in various databases.

Overall, gene and variant databases provide valuable information on the genetic basis of various diseases and conditions. They serve as a comprehensive reference for researchers, clinicians, and individuals interested in understanding the underlying genetic factors that contribute to health and disease.